Drug Shows Promise Against Fragile X Syndrome, Possibly Autism

WEDNESDAY Sept. 19, 2012 -- In a preliminary study, scientists are reporting that an experimental pill designed to treat fragile X syndrome -- a genetic condition tied to intellectual impairment, or "mental retardation," and some cases of autism -- may help patients develop better social skills.

The scientists are continuing to study the medication and have launched research into whether it may also help social withdrawal in those with autism. However, it's still not clear if the drug works, nor do its developers know how much it might cost. It's also not known whether other medications in development might do a better job, either in conjunction with the new drug or instead of it.

Still, the results so far are promising, and the medication "could be an important model for developing treatments for autism," said Dr. Michael Tranfaglia, medical director of the FRAXA Research Foundation, a nonprofit organization seeking better treatments for fragile X syndrome.

Fragile X syndrome is caused by the loss of the gene for fragile X mental retardation protein. The condition affects an estimated 100,000 people in the United States, potentially leading to mental retardation, epilepsy, autism and abnormal body growth. There is no cure for fragile X syndrome.

Essentially, the lack of the gene weakens the wiring of the brain, said Stephen Warren, chairman of human genetics at Emory University School of Medicine in Atlanta. People with the condition usually must live in group homes, although they're often able to work, he added.

Several studies have been launched into the drug -- known as arbaclofen -- as a treatment for fragile X syndrome and related autism-type conditions. The new study was funded by Seaside Therapeutics, the drug's manufacturer, and done jointly by scientists at Rush University Medical Center in Chicago and the MIND Institute at the University of California, Davis. It was the second of three phases of research required for drugs before they can be approved by the U.S. Food and Drug Administration.

In the study, Dr. Elizabeth Berry-Kravis, a professor of pediatrics, neurological sciences and biochemistry at Rush, and colleagues tested the drug over a 15-month period by giving either the drug or an inactive placebo to 63 people between the ages of 6 and 39 who have fragile X syndrome in a six-week treatment. Of those who participated, 55 were boys or men; the condition is more common in males.

Those who took the drug were better able to deal with other people on a social level, said Warren, who didn't work on the new research but has consulted for Seaside Therapeutics. "Their social anxiety was diminished. That's the real problem with these kids. They get real anxious in novel situations, and it's very difficult consequently for families to go out and have a hamburger at a restaurant."

The amount of improvement isn't easily understood on a layperson level. But Dr. Paul Wang, a vice president with Seaside Therapeutics, said families told researchers that children who took the drug were more interested in talking to, and playing with, others instead of staying in their room, for example.

Its release coincides with publication of another fragile X study, a preliminary finding involving research on mice. Neuroscientists at New York University removed the enzyme S6K1, which has previously been shown to regulate protein synthesis in fragile X syndrome mice. And they reported the mice showed both physical and behavioral improvements, although not uniformly.

The study was published in the current issue of the journal Neuron.

"We think these results set the stage for a viable pharmacological approach to target S6K1, with the aim of diminishing or even reversing the afflictions associated with fragile X syndrome," Eric Klann, a professor in NYU's Center for Neural Science and the study's senior author, said in a university news release.